Gastrohepatology testing

The Liver Molecular Genetics laboratories at King’s College Hospital form part of the SE GLH, providing specialist genetic testing services for a range of gastric and hepatic diseases.

The laboratory was founded with close collaboration between clinical, laboratory and academic groups with the aim to change clinical practice worldwide.

As early adopters of Next Generation Sequencing technology, the laboratory has considerable experience in the specialist interpretation of results and staff members actively contribute to patient management through multi-disciplinary meetings.

The laboratory was the first to clone the human bile salt export pump protein (BSEP) – a major transporter in the liver, and are currently taking part in a worldwide collaborative study investigating further genetic abnormalities in children with the aim of improving the clinical treatment of patients. The laboratory has an active research and development programme with close affiliation to King’s College London (KCL).

Tests offered and turnaround times

The Gastrohepatology genetic testing repertoire is provided jointly by the Liver Molecular Genetics Laboratory and Synnovis Analytics Molecular Pathology Laboratory, both based at King’s College Hospital. Please ensure the correct request form is used for the test(s) being requested so that referrals are directed to the appropriate laboratory:

Liver Molecular Genetics Laboratory:
  • R171 – Cholestasis (84 days)
  • R172 – Wilson disease (42 days)
  • R173 – Polycystic liver disease (42 days)
  • R175 – Pancreatitis (42 days)
  • R177 – Hirschsprung disease – familial (42 days)
  • R331 – Intestinal failure (84 days)
Synnovis Analytics Molecular Pathology Laboratory:
  • R168 – Non-acute porphyrias (42 days)
  • R169 – Acute intermittent porphyria (42 days)
  • R170 – Variegate porphyria (42 days)
  • R176 – Gilbert syndrome (14 days)

Sample type and requirements

5-10 ml of peripheral blood in EDTA is required for the tests listed (1-2 ml peripheral blood in EDTA is acceptable for paediatric cases). If DNA is to be sent directly please send 50ul of DNA at a concentration of at least 25ng/ml.
  • Specimen will not be accepted unless correctly labelled, packed and accompanied by a fully completed request form
  • All packaging should conform to PI 650 standards
If insufficient sample is received / DNA concentration is lower than optimal there is an increased chance that testing will fail.

Acceptance criteria

Samples may be rejected for the following reasons:

  • Samples and request form do not show at least three identical patient identifiers
  • The sample is in the incorrect collection media
  • The request form is not sufficiently completed
  • The sample is not of sufficient volume
  • The sample is too old

It is the responsibility of the person collecting the sample to ensure it is correctly labelled.

For scientific and clinical advice

If you wish to discuss the results or have any scientific queries please contact the laboratory on +44(0)20 3299 4625 between the hours of 09:00 and 17:30 Mon – Fri, or email

For clinical advice please contact Prof. Richard Thompson on +44(0)20 3299 4296 between the hours of 09:00 and 17:30 Mon – Fri, or email

Policy on protection of personal information

For complaints

SE GLH: Record of Discussion form

The Record of Discussion form can be downloaded and used to guide and record the patient’s consent. This should be saved in local patient records and does not need to be sent with the request form.

Lab address and opening hours

09:00 – 17:30 Mon-Fri

Liver Labs, Institute of Liver Studies,
3rd Floor Cheyne Wing,
King’s College Hospital NHS Foundation Trust,
Denmark Hill,

+44 (0)20 3299 2253/4625

Molecular Pathology c/o Central Specimen Reception,
Blood Sciences Laboratory,
Ground Floor Bessemer Wing,
King’s College Hospital,
Denmark Hill,

+44 (0)20 3299 2265/1246

Key contacts

Liver Molecular Genetics
Clinical Lead – Prof Richard Thompson
Laboratory Lead – Sammi Allouni

Synnovis Molecular Pathology
Clinical Lead – Prof David Rees
Laboratory Lead – Frances Smith

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.